A5101444985- Acute Myeloid Leukemia Research
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Chronic Myeloid Leukemia Treatments
- Erythrocyte Function and Pathophysiology
- Congenital heart defects research
- Multiple Myeloma Research and Treatments
- Neonatal Health and Biochemistry
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Mesenchymal stem cell research
- Protein Degradation and Inhibitors
- MicroRNA in disease regulation
- Genetic factors in colorectal cancer
- Blood Coagulation and Thrombosis Mechanisms
- Heparin-Induced Thrombocytopenia and Thrombosis
- Kruppel-like factors research
- Hedgehog Signaling Pathway Studies
- Bone and Joint Diseases
- Computational Drug Discovery Methods
- Hematopoietic Stem Cell Transplantation
- Metabolism and Genetic Disorders
- Tissue Engineering and Regenerative Medicine
- Peptidase Inhibition and Analysis
- Telomeres, Telomerase, and Senescence
Seoul St. Mary's Hospital
2013-2020
Catholic University of Korea
2012-2020
Cornell University
2016
Abstract Human perinatal tissue is an abundant source of mesenchymal stromal cells(MSCs) and lacks the ethical concerns. Perinatal MSCs can be obtained from various tissues as like amnion, chorion, umbilical cord. Still, little known distinct nature each MSC type. In this study, we successfully isolated cultured amnion(AMSCs), chorion(CMSCs), cord(UC-MSCs). Proliferation potential was different among them, that AMSCs revealed lowest proliferation rate due to increased Annexin V...
The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed investigate gene- or domain-specific laboratory association. Twenty-five HS patients carried one heterozygous mutation ANK1 (n = 13) SPTB 12) but not SPTA1, SLC4A1, EPB42. Deleterious mutations frameshift, nonsense, splice site...
We identified principal genetic alterations in 97.1% (99/102) of patients with T-acute lymphoblastic leukemia (T-ALL) using integrative analyses, including massive parallel sequencing and multiplex ligation-dependent probe amplification (MLPA). A total 133 mutations were the following genes descending order: NOTCH1 (66.7%), FBXW7 (19.6%), PHF6 (15.7%), RUNX1 (12.7%), NRAS (10.8%), DNMT3A (9.8%). Copy number most frequently detected CDKN2B, CDKN2A, on 9p21.3 T-ALL (45.1%). Gene expression...
Human mesenchymal stromal cells (MSCs) have served as a major cellular resource for cell-based immunomodulatory and regenerative therapies. However, genomic instability may accumulate during ex vivo expansion of MSCs, thereby increasing the potential malignant transformation. Here, we performed whole genome sequencing two peripheral blood-derived MSC lines (MSC1 MSC2) at various passages (passage 1 [P1] to P9). The majority single-nucleotide variations (SNVs) occurred in later passages;...
To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier diagnostic test and to determine impact CMA results on patient management, we conducted multicenter prospective study in Korean patients diagnosed having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA).We performed both G-banding cytogenetics tests 617 patients. whether directly influenced treatment recommendations, referring...
DNMT3A mutations occur in approximately 20% of AML cases and are associated with changes DNA methylation. CDKN2B plays an important role the regulation hematopoietic progenitor cells mutation is promoter We analyzed characteristics including their clinical significance influence on methylation expression.A total 142 adults, recently diagnosed de novo AML, were enrolled study. Mutations DNMT3A, CEBPA, NPM1 by bidirectional Sanger sequencing. evaluated expression using pyrosequencing...
We evaluated the characteristics of bone marrow stromal cells (BMSCs) and hematopoietic (HCs) from patients myelodysplastic syndrome (MDS, n=21) acute myeloid leukemia (AML, n=58), compared results with control BMSCs derived healthy donors (n=8). The patient had lower proliferative activity than that controls due to increased senescence. This retarded proliferation induced failure obtain enough metaphase for karyotyping in (10%). Patient were genetically altered which was demonstrated by...
This study focused on the characterization of mesenchymal stromal cells (MSCs) from chorion human full term placenta 15 donors. Chorionic MSCs revealed homologous fibroblast-like morphology and expressed CD73, CD29, CD105, CD90. The hematopoietic stem cell markers including HLA DR, CD11b, CD34, CD79a, CD45 were not expressed. growth kinetics their serial passage was steady at later passages (passage 10). multilineage capability chorionic demonstrated by successful adipogenic, osteogenic...
Human bone marrow-mesenchymal stromal cells (hBM-MSCs) undergo cellular senescence during in vitro culture. In this study, we defined replicative as impaired proliferation, deterioration representative cell characteristics, accumulated DNA damage, and decreased telomere length telomerase activity with or without genomic abnormalities. The UBC gene expression gradually passaging along the reduction series of molecules including hub genes; CDK1, CCNA2, MCM10, E2F1, BRCA1, HIST1H1A HIST1H3B....
Jaewoong Lee, M.D., Joonhong Park, Ph.D., Hayoung Choi, B.S., Jiyeon Kim, Ahlm Kwon, Woori Jang, Hyojin Chae, Myungshin Yonggoo Jae Wook Nack-Gyun Chung, and Bin Cho, Ph.D.. Ann Lab Med 2017;37:108-16. https://doi.org/10.3343/alm.2017.37.2.108
Dong Wook Jekarl, M.D., Chang-Ki Min, Ahlm Kwon, M.T., Hyunjung Kim, Hyojin Chae, Myungshin Jihyang Lim, Yonggoo and Kyungja Han, M.D.. Ann Lab Med 2013;33:248-54. https://doi.org/10.3343/alm.2013.33.4.248
KIT exon 17 mutation is a poor prognostic factor in core-binding acute myeloid leukemia. However, the detection method used for risk assessment not assigned. It necessary to verify analytical and clinical performance before applying new methods. Herein, we firstly applied highly sensitive allele-specific, real-time quantitative PCR (AS-qPCR) assay analyze mutations, which demonstrated excellent sensitivity specificity. Much higher incidence of mutations (62.2%, 69/111) prevalence multiple...
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages. The current study demonstrates that three driver mutations were detected in 82.6% 407 MPNs with a mutation distribution JAK2 275 (67.6%), CALR 55 (13.5%) and MPL 6 (1.5%). mutually exclusive principle except patient both mutations. directed pathologic features MPNs, including lineage hyperplasia, laboratory findings clinical presentation....
The objective of this study was to explore characteristics bone marrow mesenchymal stromal cells (BM-MSCs) derived from patients with myelodysplastic syndrome (MDS) and multiple myeloma (MM).BM-MSCs were recovered 17 MDS patients, 23 MM 9 healthy donors passaged until proliferation stopped. General gene expression profiles MSCs analysed. In vitro, ex vivo coculture, immunohistochemistry knockdown experiments performed verify changes.BM-MSCs failed culture in 35.0% 50.0% BM-MSCs stopped...
Hepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate non-invasive biomarker for early detection monitoring HCC required. We assessed pathogenic variants driver genes in cell-free DNA (cfDNA) from patients who had not undergone systemic therapy.Plasma cfDNA was collected 20 patients, deep sequencing performed using a customized next-generation panel, targeting major (TP53, CTNNB1, TERT) that incorporates molecular barcoding.In...
Corneal dystrophies (CDs) are a diverse group of inherited disorders with heterogeneous genetic background. Here, we report the identification novel ZNF143 heterozygous missense mutation in three individuals same family clinical and pathological features that consistent endothelial CD. Ophthalmologic examination revealed diffuse corneal clouding edema decreased cell density. Pathological findings showed increased thickness due to basal epithelial cells stroma, abnormal metaplastic...